Linked Data
ClinVar Variation Id:
16183
ClinVar RCV Id:
RCV000017567
dbSNP Id:
rs80358224
PubMed:
PMID:10192395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576538G>A , CM000663.2:g.58576538G>A | GRCh38 |
| NC_000001.10:g.59042210G>A , CM000663.1:g.59042210G>A | GRCh37 |
| NC_000001.9:g.58814798G>A | NCBI36 |
| NG_016237.1:g.5957C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371225.4:c.619C>T MANE Select | ENSP00000360269.2:p.Gln207Ter | |
| ENST00000371225.3:c.619C>T | ENSP00000360269.2:p.Gln207Ter | |
| NM_002353.2:c.619C>T | NP_002344.2:p.Gln207Ter | |
| NM_002353.3:c.619C>T MANE Select | NP_002344.2:p.Gln207Ter |